All transcript variants in gene EPCAM


NOTE: alias for geneID is TACSTD1
Information The variants shown are described using the NM_002354.2 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 7i_9_ c.858+2478_*4507del r.? p.? - pathogenic (dominant) g.47609586_47618259del g.47382447_47391120del - - EPCAM_000075 8674 bp deletion +_AluSp to +_AluSp PubMed: Dymerska 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.858+2478_*4507del r.? p.? - pathogenic (dominant) g.47609586_47618259del g.47382447_47391120del - - EPCAM_000075 8674 bp deletion +_AluSp to +_AluSp PubMed: Dymerska 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.858+2478_*4507del r.? p.? - pathogenic (dominant) g.47609586_47618259del g.47382447_47391120del - - EPCAM_000075 8674 bp deletion +_AluSp to +_AluSp PubMed: Dymerska 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.858+2478_*4507del r.? p.? - pathogenic (dominant) g.47609586_47618259del g.47382447_47391120del - - EPCAM_000075 8674 bp deletion +_AluSp to +_AluSp PubMed: Dymerska 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.858+2478_*4507del r.? p.? - pathogenic (dominant) g.47609586_47618259del g.47382447_47391120del - - EPCAM_000075 8674 bp deletion +_AluSp to +_AluSp PubMed: Dymerska 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.858+2478_*4507del r.? p.? - pathogenic (dominant) g.47609586_47618259del g.47382447_47391120del - - EPCAM_000075 8674 bp deletion +_AluSp to +_AluSp PubMed: Dymerska 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.858+2478_*4507del r.? p.? - pathogenic (dominant) g.47609586_47618259del g.47382447_47391120del - - EPCAM_000075 8674 bp deletion +_AluSp to +_AluSp PubMed: Dymerska 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.858+2478_*4507del r.? p.? - pathogenic (dominant) g.47609586_47618259del g.47382447_47391120del AC079775.6:g.77436_86109del8674 - EPCAM_000075 8674 bp deletion +_AluSp to +_AluSp PubMed: Kovacs 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.858+2478_*4507del r.? p.? - pathogenic (dominant) g.47609586_47618259del g.47382447_47391120del - - EPCAM_000075 8674 bp deletion +_AluSp to +_AluSp PubMed: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.858+2478_*4507del r.? p.? - pathogenic (dominant) g.47609586_47618259del g.47382447_47391120del - - EPCAM_000075 8674 bp deletion +_AluSp to +_AluSp PubMed: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
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